CACNA2D4 Gene Summary [Human]
This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CACNA2D4 |
| Official Name | calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Source:HGNC Symbol;Acc:HGNC:20202] |
| Ensembl ID | ENSG00000151062 |
| Bio databases IDs | |
| Aliases | calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
| Synonyms | 5730412N02RIK, BE686333, calcium channel, voltage-dependent, alpha 2/delta subunit 4, calcium channel, voltage-dependent, α 2/δ subunit 4, calcium voltage-gated channel auxiliary subunit alpha2delta 4, RCD4, RGD1562038 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CACNA2D4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated calcium channel
- Neuronal voltage-dependent calcium channel alpha 2acd
- von Willebrand factor (vWF) type A domain
- vWFA
- von Willebrand factor type A domain
- Sensor domains of Histidine Kinase receptors
- VWA N-terminal
- ion channel
Pathways
Biological processes and signaling networks where the CACNA2D4 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- pregabalin
regulates
- Ca2+
disease
- non-insulin-dependent diabetes mellitus
- HIV infection
- human immunodeficiency virus I infection
- diabetes mellitus
- cancer
- pain
- neuropathy
- neuropathic pain
- generalized anxiety disorder
- peripheral mononeuropathic pain
phenotypes
- Cone rod dystrophy
- Congenital stationary night blindness
- RETINAL CONE DYSTROPHY 4
role in cell
- neural network activity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CACNA2D4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detection of light stimulus involved in visual perception
- calcium ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- voltage-gated calcium channel complex
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- voltage-gated calcium channel activity